Reactome | HPRT1 G70E [cytosol]

HPRT1 G70E [cytosol]

Stable Identifier

R-HSA-9734286

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Hypoxanthine-guanine phosphoribosyltransferase G70E

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Literature References

PubMed ID	Title	Journal	Year
17454734	Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients Guelbert, N, Randall, M, O'Neill, JP, Laróvere, LE, de Kremer, RD, Czornyj, L, Fairbanks, LD	Nucleosides Nucleotides Nucleic Acids	2007
2738157	Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts Davidson, BL, Palella, TD, Tarlé, SA, Kelley, WN	J Clin Invest	1989

External Reference Information

External Reference

UniProt:P00492 HPRT1

Gene Names

HPRT1, HPRT

Chain

initiator methionine:, chain:2-218

Reference Genes

BioGPS Gene:3251 HPRT1

COSMIC (genes):HPRT1 HPRT1

CTD Gene:3251 HPRT1

dbSNP Gene:3251 HPRT1

ENSEMBL:ENSG00000165704 HPRT1

ENSEMBL_homo_sapiens_GENE:ENSG00000165704.15 HPRT1

HGNC:5157 HPRT1

KEGG Gene (Homo sapiens):3251 HPRT1

Monarch:3251 HPRT1

NCBI Gene:3251 HPRT1

OMIM:308000 HPRT1

UCSC:P00492 HPRT1

Reference Transcript

RefSeq:NM_000194.2 HPRT1

Other Identifiers

11758015_s_at

17107045

202854_PM_at

202854_at

3251

37640_at

3991699

3991700

3991703

3991704

3991709

3991712

3991716

3991717

3991719

3991720

3991721

3991722

3991723

53029_at

8169984

A_23_P11372

GE57924

GO:0000166

GO:0000287

GO:0001913

GO:0001975

GO:0002376

GO:0003824

GO:0004422

GO:0005515

GO:0005576

GO:0005615

GO:0005737

GO:0005829

GO:0006164

GO:0006166

GO:0006178

GO:0007625

GO:0007626

GO:0016740

GO:0016757

GO:0021756

GO:0021895

GO:0021954

GO:0030154

GO:0032263

GO:0032264

GO:0042417

GO:0042802

GO:0043103

GO:0043226

GO:0044209

GO:0045964

GO:0046038

GO:0046040

GO:0046083

GO:0046100

GO:0046651

GO:0046872

GO:0048813

GO:0048856

GO:0051289

GO:0052657

GO:0055086

GO:0065003

GO:0070062

GO:0071542

GO:1901135

HMNXSV003009943

ILMN_1736940

ILMN_2056975

M31642_at

PH_hs_0024909

TC0X000636.hg

g4504482_3p_at

Participates

as a component of

HPRT1 G70E tetramer [cytosol] (Homo sapiens)

Other forms of this molecule

HPRT1 [cytosol]

HPRT1 D194N [cytosol]

HPRT1 G140D [cytosol]

Modified Residues

Name

glycine 70 replaced with L-glutamic acid

Coordinate

PsiMod

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

L-glutamic acid residue [MOD:00015]

A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.

Disease

Name	Identifier	Synonyms
Lesch-Nyhan syndrome	DOID:1919	Lesch - Nyhan syndrome, X-linked hyperuricemia, hypoxanthine guanine phosphoribosyltransferase deficiency, HG-PRT deficiency, deficiency of IMP pyrophosphorylase, Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency

Cross References

RefSeq

NP_000185.1

OpenTargets

ENSG00000165704

ZINC - Substances

HPRT_HUMAN

ZINC target

P00492

PRO

P00492

PDB

5W8V, 5HIA, 4RAO, 1D6N, 3GGJ, 2VFA, 1BZY, 6BNJ, 4RAC, 4KN6, 4RAQ, 3GEP, 4RAN, 3GGC, 5BRN, 4IJQ, 5BSK, 7SAN, 4RAB, 4RAD, 1Z7G, 1HMP

IntEnz

2.4.2.8

GeneCards

P00492

HPA

ENSG00000165704-HPRT1

Ensembl

ENST00000298556, ENSP00000298556, ENSG00000165704

Pharos - Targets

P00492

ZINC - Predictions - Purchasable

HPRT_HUMAN

Orphanet

16214

HMDB Protein

HMDBP00475

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O00560 SDCBP	3	SDCBP [extracellular region] (R-HSA-6806206) SDCBP [azurophil granule lumen] (R-HSA-6799372) SDCBP [cytosol] (R-HSA-373639)	0.781	7
UniProt:Q9H1K1 ISCU	1	ISCU [cytosol] (R-HSA-9771680)	0.666	4
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	15
UniProt:Q96G04 EEF2KMT	1	EEF2KMT [cytosol] (R-HSA-8876690)	0.556	3
UniProt:P13569 CFTR	17	PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) CFTR [lysosomal membrane] (R-HSA-5627279) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [endosome membrane] (R-HSA-6782965) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) ub-CFTR F508del [cytosol] (R-HSA-8866838) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) CFTR G542* [plasma membrane] (R-HSA-5678986) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR [plasma membrane] (R-HSA-383188) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730)	0.483	7